Hereditary and congenital pathologies are a big problem for modern medicine, despite the fact that they are extremely rare, in no more than 5% of newborns. Hereditary diseases form against the background of violations in the genetic apparatus of the cell embryo. Congenital pathologies appear due to fetal damage throughout the development process.
The greatest danger of two pathologies is the huge risk of having a baby with improperly formed internal and external organs. Not only the body can suffer, but also the brain, the organs of hearing and vision. If a birth defect can still be eliminated, albeit rarely, then it is impossible to get rid of a disease that has arisen amid changes in the genetic apparatus.
Dubovitsa Syndrome
This is a hereditary genetic disorder characterized by physical disabilities and mental retardation of varying degrees. Deviations develop in the perinatal period during normal pregnancy in the mother. Delay in development lasts for a lifetime and most often against the background of weight deficiency. The disorder is extremely unpredictable in its manifestations.
Characteristic manifestations include: short stature, light weight, skin rash and facial deformities. In most cases, patients suffer from microcephaly. Patients with this syndrome are restless, disinhibited, and excessively mobile.
Historical background and epidemiology
Dubovitz syndrome in 1965 was first described by a pediatrician from England - V. Dubovits. In fact, this happened much earlier, in 1931, but he published his research only after 34 years. The doctor had two patients, girls with almost the same symptoms: unusual appearance, hypoplasia, oligophrenia and peeling of the skin. Initially, the doctor suggested that it was Bloom's syndrome, but later he realized that this was still a new nosological form, which was later named in his honor.
Today it is established that the syndrome is equally common in boys and girls. As of 2002, 200 cases of giving birth to children with the syndrome were registered in the country. It is believed that in fact there are much more cases, but they are either not recognized by doctors, or pass under other diagnoses.
Clinical picture
The main symptoms of Dubovitz syndrome are associated with facial abnormalities. Most often, they are the key to the diagnosis. For children with such a disorder, it is characteristic:
- sloping forehead;
- wide back of the nose;
- flat and even undeveloped eyebrows, with rare eyebrows;
- sparse or, in general, missing hair on the head;
- beveled chin;
- narrow cut of eyes;
- lack of body weight;
- high or hoarse voice;
- dysplastic auricles;
- large distance between the eyes;
- small lower jaw.
Often, patients have ptosis. What does this mean in this case? Most often this is the omission of one part of the face or only the eyes.
The nature of children with the syndrome is characterized by hyperactivity, shyness and obstinacy.
Approximately 50% of children with the disorder have eczema or flaking of the skin. Such problems most often occur on the face, flexion surfaces and head. Many patients suffer from dwarfism or stunting. A decrease in the size of the skull or microcephaly is another characteristic feature. There may be a delay in the development of the jawbone, entailing problems with teething and multiple caries.
Often babies are born weighing 2.5 kg, while in a normal nine-month period, but with signs of intrauterine hypoplasia.
Other symptoms
In addition to increased activity, children with the syndrome may have mental retardation of varying severity, but still it most often occurs in a mild form or, in general, is absent. Often manifested a delay in the development of the skeletal system, pronounced anomaly of the legs.
In general, the clinical picture of this disease is so diverse that almost every case has its own individual characteristics, since a genetic disorder can manifest itself in any organ system.
Causes
Dubovitsa syndrome has an autosomal recessive type of hereditary transmission. It is assumed that it develops against the background of mutations of one of the genes, which has not yet been established. Previously, the version was put forward that the reason was the close blood ties of the parents, but later, it was possible to establish that such a case out of all the described cases was only one.
Diagnosis and treatment
There are no biochemical criteria to identify Dubovitz syndrome, therefore, the diagnosis is made on the basis of a combination of clinical manifestations. In some cases, it is only possible on an X-ray examination to identify abnormalities in bone development.
The main thing is that the doctor conducts differential diagnosis with diseases that have a similar clinical picture: with Bloom syndrome, fetal alcohol syndrome, etc.
During fetal gestation, an ultrasound scan to detect intrauterine growth retardation and microcephaly, a fetus may be suspected of having a syndrome.
Therapeutic measures for Dubovitz syndrome are aimed only at stimulating psycho-speech development and correcting behavioral disorders.
Today, there is no specific prophylaxis for this type of disorder. However, the prognosis is very good, with one condition - a regular visit to the doctor. In most cases, children with the syndrome, having a slight deviation in mental development, lead an ordinary lifestyle.